Article
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
Neurology - 16 Sept 2014
Méneret Aurélie, Ahmar-Beaugendre Yara, Rieunier Guillaume, Mahlaoui Nizar, Gaymard Bertrand, Apartis Emmanuelle, Tranchant Christine, Rivaud-Péchoux Sophie, Degos Bertrand, Benyahia Baya, Suarez Felipe, Maisonobe Thierry, Koenig Michel, Durr Alexandra, Stern Marc-Henri, Dubois d'Enghien Catherine, Fischer Alain, Vidailhet Marie, Stoppa-Lyonnet Dominique, Grabli David, Anheim Mathieu
Abstract excerpt
OBJECTIVE: To assess the clinical spectrum of ataxia-telangiectasia (A-T) in adults, with a focus on movement disorders. METHODS: A total of 14 consecutive adults with A-T were included at 2 tertiary adult movement disorders centers and compared to 53 typical patients with A-T. Clinical evaluation, neurophysiologic and video-oculographic recording, imaging, laboratory investigations, and ATM analysis were...
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